DISEASES

Disease-gene associations mined from literature

Human genes for osteogenesis imperfecta type 2

Osteogenesis imperfecta type 2 [DOID:0110341]

An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

Synonyms:  osteogenesis imperfecta type 2,  DOID:0110341,  OI2,  osteogenesis imperfecta type II,  perinatal lethal osteogenesis imperfecta congenita ...